How a technological revolution is helping us to understand the human Y chromosome

Professor Mark Jobling (pictured) from the Department of Genetics and Genome Biology has published a new review in Nature Reviews Genetics with a colleague from the Wellcome Trust Sanger Institute in Cambridge which examines the properties of the human Y chromosome and how modern DNA sequencing technologies are illuminating its diversity in populations.

The properties of the human Y chromosome – namely, male specificity, presence in only one copy, and escape from genetic reshuffling between generations — make it an unusual component of our genome, and have led to its genetic variation becoming a key part of studies of human evolution, population history, genealogy, forensics and male medical genetics.

Next-generation sequencing technologies have driven recent progress in all these areas, yielding direct measurements of the rate of change of Y-chromosome DNA, and an unbiased and calibrated molecular family tree of Y chromosomes that has unprecedented detail.

The review discusses how a technological revolution over the past few years has allowed Y-chromosome DNA sequences to be determined in large population samples, revealing male expansions at the time of the migration of modern humans out of Africa ~60,000 years ago and in the last few millennia, shedding light on the shared history of humans.

Professor Jobling said: “With the high-quality genome sequences of millions of men expected to be available in the next few years as part of medically-focused projects and ‘citizen science’ activities, we look forward to a detailed phylogenetic tree that links all their Y chromosomes, helps us to understand our shared history, and reveals the clear-cut or subtle medical consequences of carrying one type of Y chromosome instead of another.”